Chromosomal diagnosis of the Werner syndrome

C. Jaramillo; R. J. Jorgenson; D. A. Miles; C. M. Moore

Chromosomal diagnosis of the Werner syndrome

C. Jaramillo, R. J. Jorgenson, D. A. Miles, C. M. Moore

Cell Systems & Anatomy

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

The purpose of this paper is to describe a patient with mild features of the Werner syndrome and to stress the usefulness of a generally unappreciated diagnostic chromosomal finding in the Werner syndrome. Chromosomal studies indicated a mosaic constitution: 45,X/46,X,r(X)/47,XXX and translocations involving the X chromosome and chromosomes 16 and 19. She also had a normal 46,XX cell line. Specifically, 10% of her cells had a 45,X chromosome constitution.

Original language	English (US)
Pages (from-to)	119-126
Number of pages	8
Journal	Birth Defects: Original Article Series
Volume	21
Issue number	2
State	Published - Dec 1 1985

ASJC Scopus subject areas

Developmental Biology
Genetics(clinical)

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title = "Chromosomal diagnosis of the Werner syndrome",

abstract = "The purpose of this paper is to describe a patient with mild features of the Werner syndrome and to stress the usefulness of a generally unappreciated diagnostic chromosomal finding in the Werner syndrome. Chromosomal studies indicated a mosaic constitution: 45,X/46,X,r(X)/47,XXX and translocations involving the X chromosome and chromosomes 16 and 19. She also had a normal 46,XX cell line. Specifically, 10% of her cells had a 45,X chromosome constitution.",

author = "C. Jaramillo and Jorgenson, {R. J.} and Miles, {D. A.} and Moore, {C. M.}",

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AB - The purpose of this paper is to describe a patient with mild features of the Werner syndrome and to stress the usefulness of a generally unappreciated diagnostic chromosomal finding in the Werner syndrome. Chromosomal studies indicated a mosaic constitution: 45,X/46,X,r(X)/47,XXX and translocations involving the X chromosome and chromosomes 16 and 19. She also had a normal 46,XX cell line. Specifically, 10% of her cells had a 45,X chromosome constitution.

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